Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.

doi:10.1002/ajmg.a.35446

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Article

Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.

American journal of medical genetics. Part A - 1 Sept 2012

Allanson Judith, Smith Amanda, Hare Heather, Albrecht Beate, Bijlsma Emilia, Dallapiccola Bruno, Donti Emilio, Fitzpatrick David, Isidor Bertrand, Lachlan Katherine, Le Caignec Cedric, Prontera Paolo, Raas-Rothschild Annick, Rogaia Daniela, van Bon Bregje, Aradhya Swaroop, Crocker Susan F, Jarinova Olga, McGowan-Jordan Jean, Boycott Kym, Bulman Dennis, Fagerberg Christina Ringmann

Abstract excerpt

Nablus mask-like facial syndrome (NMLFS) has many distinctive phenotypic features, particularly tight glistening skin with reduced facial expression, blepharophimosis, telecanthus, bulky nasal tip, abnormal external ear architecture, upswept frontal hairline, and sparse eyebrows. Over the last few years, several individuals with NMLFS have been reported to have a microdeletion of 8q21.3q22.1, demonstrated by...

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PMID: 22821852
DOI: 10.1002/ajmg.a.35446

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